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Background  Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant cutaneous disorder caused by the mutations of adenosine deaminase acting on RNA1 ( ADAR1 ) gene. We present a clinical and genetic study of seven unrelated families and two sporadic cases with DSH for mutations in the full coding sequence of  ADAR1  gene.    Methods   ADAR1  gene was sequenced in seven unrelated families and two sporadic cases with DSH and 120 controls. Functional significance of the observed  ADAR1  mutations was analyzed using PolyPhen 2, SIFT and DDIG-in.    Results  We describe six novel mutations of the  ADAR1  gene in Chinese patients with DSH including a nonstop mutation p.Stop1227R, which was firstly reported in  ADAR1  gene. In silico analysis proves that all the mutations reported here are pathogenic.    Conclusion  This study is useful for functional studies of the protein and to define a diagnostic strategy for mutation screening of the  ADAR1  gene. A three-generation family exhibiting phenotypic variability with a single germline  ADAR1  mutation suggests that chilblain might aggravate the clinical phenotypes of DSH.

Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene